A nonsense mutation in CHCHD2 in a patient with Parkinson disease

Eva Koschmidder; Anne Weissbach; Norbert Brüggemann; Meike Kasten; Christine Klein; Katja Lohmann

doi:10.1212/WNL.0000000000002361

A nonsense mutation in CHCHD2 in a patient with Parkinson disease

Eva Koschmidder, Anne Weissbach, Norbert Brüggemann, Meike Kasten, Christine Klein, Katja Lohmann^*

^*Corresponding author for this work

26 Citations (Scopus)

Abstract

While Parkinson disease (PD) was for many years regarded as a textbook example of a nongenetic disease, this view has dramatically changed over the past 2 decades with the identification of a number of genes, mutations in which cause monogenic PD. In recent years, the identification of disease genes was facilitated due to the advent of next-generation sequencing (NGS) resulting in an exponential increase in the number of reported disease genes. 1 These observations require independent confirmation since the number of false-positive results has likewise considerably increased. 2

Original language	English
Journal	Neurology
Volume	86
Issue number	6
Pages (from-to)	577-579
Number of pages	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.0000000000002361
Publication status	Published - 09.02.2016

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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10.1212/WNL.0000000000002361

Cite this

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AU - Weissbach, Anne

AU - Brüggemann, Norbert

AU - Kasten, Meike

AU - Klein, Christine

AU - Lohmann, Katja

PY - 2016/2/9

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AB - While Parkinson disease (PD) was for many years regarded as a textbook example of a nongenetic disease, this view has dramatically changed over the past 2 decades with the identification of a number of genes, mutations in which cause monogenic PD. In recent years, the identification of disease genes was facilitated due to the advent of next-generation sequencing (NGS) resulting in an exponential increase in the number of reported disease genes. 1 These observations require independent confirmation since the number of false-positive results has likewise considerably increased. 2

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ER -

A nonsense mutation in CHCHD2 in a patient with Parkinson disease

Abstract

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